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Results for "ARHGEF10L"

Variant Events: 13

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
ARHGEF10L     1-0568-003chr1:
17990886-17990889
CAGGCintronicDe novo--Yuen2017 G
ARHGEF10L     11989.p1chr1:
17907117-17907117
GTexonicDe novononsynonymous SNVNM_001011722
NM_018125
c.G27T
c.G27T
p.Q9H
p.Q9H
15.95-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Wilfert2021 G
ARHGEF10L     1-0464-003chr1:
18065319-18065319
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ARHGEF10L     2-1428-003chr1:
17888413-17888413
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGEF10L     1-0248-003chr1:
17944984-17945003
CCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCintronicDe novo--Yuen2017 G
ARHGEF10L     2-1591-003chr1:
17992273-17992273
GAintronicDe novo--Yuen2017 G
ARHGEF10L     SP0034444chr1:
17948388-17948388
CTexonicDe novosynonymous SNVNM_001011722
NM_018125
c.C855T
c.C972T
p.I285I
p.I324I
-3.296E-5Feliciano2019 E
ARHGEF10L     AU048206chr1:
18056089-18056089
TCintergenicDe novo--Yuen2017 G
ARHGEF10L     2-1561-003chr1:
18008639-18008639
ATintronicDe novo--Yuen2017 G
ARHGEF10L     7-0188-003chr1:
18038457-18038457
CTintergenicDe novo--Yuen2017 G
ARHGEF10L     AU2109302chr1:
18014652-18014652
CTintronicDe novo--Yuen2017 G
ARHGEF10L     AU2137304chr1:
17912888-17912888
GAintronicDe novo--Yuen2017 G
ARHGEF10L     AU3764302chr1:
17968199-17968199
CTintronicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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